Children born small for gestational age have bioactive insulin-like growth-factor-1 levels within the normal reference range during the first year of growth hormone treatment, despite substantial increases in IGF-1, research shows.
Cases of neonatal severe hyperparathyroidism fall into two distinct categories determined by the number of causative genetic variants, which can be distinguished simply by measuring maximal calcium levels, say researchers.
Researchers have found reduced brain volume in children with Silver-Russell Syndrome, as well as cognitive impairment that is dependent on the underlying genetic defect.
A 4-year-old girl, referred to the Paediatric Assessment Unit by the GP, with a 2-week history of a cough, feeling unwell, and tired. Accompanied by her mother.
Real-world data support guideline stance on rhGH plus GnRHa in central precocious or early and fast puberty
Girls with central precocious puberty or early and fast puberty benefit from the addition of recombinant human growth hormone to gonadotropin-releasing hormone analogues but the combination should not be routinely recommended, researchers report.
Children with IGF1 receptor mutations have a greater degree of growth retardation and worse response to recombinant human growth hormone therapy than children born small for gestational age without the alterations, research shows.
The European Cooperation in Science and Technology Action DSDnet group have published recommendations for standardised data collection during clinical follow-up of patients with differences of sexual development.
An algorithm-based search of the electronic health records of girls with idiopathic short stature can identify those with overlooked Turner syndrome, a study shows.
Retrospective diagnosis of Turner syndrome using electronic health records or screening at initial assessment
Children who are born small for gestational age and have syndromic short stature of unknown cause should be tested for genetic abnormalities using whole-exome sequencing researchers suggest.